Researchers at the Hospital of Sant Pau in Barcelona, Spain, have shown that a new biomarker, detected by a simple blood test, makes it possible to make an early diagnosis of Alzheimer’s disease in people with Down Syndrome. The research, published today by The Lancet Neurology journal, was led by the director of the Neurology section at the Hospital of Sant Pau, Rafael Blesa.
The neurologist has explained that, so far, the most studied biomarkers of Alzheimer’s disease are amyloid protein and Tau protein. But, his team’s work has confirmed that the Neurofilament Light chain (NfL), a tiny protein that originates in the axon of neurons, is a biomarker in people with Down Syndrome that is altered when Alzheimer’s disease installs.
The amyloid and Tau proteins, the other indicators of Alzheimer’s, can only be measured in the cerebrospinal fluid and are too large to enter the plasma, so a lumbar puncture is necessary.
Spanish researchers found a way to make an early diagnosis of Alzheimer’s disease in people with Down Syndrome
“Researchers around the world are looking for new biomarkers that are easier to measure to be able to diagnose Alzheimer’s disease in its earliest stages, and we have been able to anticipate this because we have the largest clinically evaluated cohort of people with Down Syndrome in the world,” said Blesa, who expects to have more than a thousand people with Down’s disease in their clinical record within three years.
A new technology to detect the smallest proteins in blood plasma, called SIMOA, has made it possible to identify the presence of Nfl in the blood of people with Down Syndrome and to certify that NfL is indeed an indicator these people’s organism develops when Alzheimer’s disease is in its early stages.
The results of research conducted on patients with Down Syndrome have certified that the blood test for detecting the NfL protein is 90% accurate, said Blesa, who also stressed that this biomarker makes it more comfortable, “more accessible and cheaper to make an earlier and more accurate diagnosis of the Alzheimer’s disease symptoms” in patients with Down Syndrome.